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[Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses]
Lin-bei Deng1, Yi Quan, Jing Liu
1State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P.R. China. wulingqian@sklmg.edu.cn.
Summary
Two novel EXT1 gene mutations were identified in Chinese families with hereditary multiple exostoses. These findings aid genetic counseling and expand the known spectrum of EXT1 mutations.
Area of Science:
- Genetics
- Molecular Biology
- Medical Genetics
Background:
- Hereditary multiple exostoses (HME) is a genetic disorder characterized by the development of multiple bone tumors.
- Mutations in the EXT1 gene are a common cause of HME.
Purpose of the Study:
- To identify the genetic cause of HME in two Chinese families.
- To offer genetic counseling based on the findings.
Main Methods:
- Direct sequencing of PCR-amplified exons of the EXT1 and EXT2 genes in affected individuals.
- Verification of identified mutations in family members and healthy controls.
Main Results:
- Two novel heterozygous mutations in the EXT1 gene were identified: a frameshift mutation (c.346_356delinsTAT) in exon 1 and a deletion mutation (c.2009-2012del(TCAA)) in exon 10.
- These mutations were present in affected individuals but not in unaffected family members or 200 healthy controls.
- No mutations in the EXT2 gene were found in either family.
Conclusions:
- Two new EXT1 mutations are associated with hereditary multiple exostoses in Chinese families.
- These discoveries provide a foundation for genetic counseling and broaden the understanding of EXT1 mutation spectrum.
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